ClinVar Miner

List of variants reported as pathogenic for Von Hippel-Lindau syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 13
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HGVS dbSNP
NM_000551.3(VHL):c.(?_464)_642+?del
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_198156.3(VHL):c.341-3206del rs397516442

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